EFEMP1 and age-related macular degeneration: Moreover, autosomal dominant mutations in EFEMP1 have been linked to eye diseases, including juvenile glaucoma (13, 14), primary open angle glaucoma (15), retinal degeneration (16), and a juvenile form of AMD called Malattia Leventinese/Doyne honeycomb retinal dystrophy (ML/DHRD) (17, 18).